Ferlini A - Search Results

1

Hydrocephalus, skeletal anomalies, and mental disturbances in a mother and three daughters: a new syndrome.

Ferlini A, Ragno M, Gobbi P, Marinucci C, Rossi R, Zanetti A, Milan M, Camera G, Calzolari E. Ferlini A, et al. Am J Med Genet. 1995 Dec 4;59(4):506-11. doi: 10.1002/ajmg.1320590419. Am J Med Genet. 1995. PMID: 8585573

2

Reduced activity of arylsulfatase A and predisposition to neurological disorders: analysis of 140 pediatric patients.

Sangiorgi S, Ferlini A, Zanetti A, Mochi M. Sangiorgi S, et al. Among authors: ferlini a. Am J Med Genet. 1991 Sep 1;40(3):365-9. doi: 10.1002/ajmg.1320400324. Am J Med Genet. 1991. PMID: 1683156

3

An Italian kindred with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Ragno M, Tournier-Lasserve E, Fiori MG, Manca A, Patrosso MC, Ferlini A, Sirocchi G, Trojano L, Chabriat H, Salvi F. Ragno M, et al. Among authors: ferlini a. Ann Neurol. 1995 Aug;38(2):231-6. doi: 10.1002/ana.410380216. Ann Neurol. 1995. PMID: 7654071

4

Androgen receptor gene (CAG)n repeat analysis in the differential diagnosis between Kennedy disease and other motoneuron disorders.

Ferlini A, Patrosso MC, Guidetti D, Merlini L, Uncini A, Ragno M, Plasmati R, Fini S, Repetto M, Vezzoni P, et al. Ferlini A, et al. Am J Med Genet. 1995 Jan 2;55(1):105-11. doi: 10.1002/ajmg.1320550125. Am J Med Genet. 1995. PMID: 7702080

5

Transthyretin-related TTR hereditary amyloidosis of the vitreous body. Clinical and molecular characterization in two Italian families.

Salvi F, Salvi G, Volpe R, Mencucci R, Plasmati R, Michelucci R, Gobbi P, Santangelo M, Ferlini A, Forabosco A, et al. Salvi F, et al. Among authors: ferlini a. Ophthalmic Paediatr Genet. 1993 Mar;14(1):9-16. doi: 10.3109/13816819309087617. Ophthalmic Paediatr Genet. 1993. PMID: 8345958

6

Characterization of a deleted Y chromosome in a male with Turner stigmata.

Calzolari E, Patracchini P, Palazzi P, Aiello V, Ferlini A, Trasforini G, degli Uberti E, Bernardi F. Calzolari E, et al. Among authors: ferlini a. Clin Genet. 1993 Jan;43(1):16-22. doi: 10.1111/j.1399-0004.1993.tb04419.x. Clin Genet. 1993. PMID: 8462191

7

Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.

Vacca M, Filippini F, Budillon A, Rossi V, Mercadante G, Manzati E, Gualandi F, Bigoni S, Trabanelli C, Pini G, Calzolari E, Ferlini A, Meloni I, Hayek G, Zappella M, Renieri A, D'Urso M, D'Esposito M, MacDonald F, Kerr A, Dhanjal S, Hultén M. Vacca M, et al. Among authors: ferlini a. J Mol Med (Berl). 2001;78(11):648-55. doi: 10.1007/s001090000155. J Mol Med (Berl). 2001. PMID: 11269512

8

Biosensor technology for real-time detection of the cystic fibrosis W1282X mutation in CFTR.

Feriotto G, Ferlini A, Ravani A, Calzolari E, Mischiati C, Bianchi N, Gambari R. Feriotto G, et al. Among authors: ferlini a. Hum Mutat. 2001;18(1):70-81. doi: 10.1002/humu.1151. Hum Mutat. 2001. PMID: 11438995

9

Exploring the clinical and epidemiological complexity of GJB2-linked deafness.

Gualandi F, Ravani A, Berto A, Sensi A, Trabanelli C, Falciano F, Trevisi P, Mazzoli M, Tibiletti MG, Cristofari E, Burdo S, Ferlini A, Martini A, Calzolari E. Gualandi F, et al. Among authors: ferlini a. Am J Med Genet. 2002 Sep 15;112(1):38-45. doi: 10.1002/ajmg.10621. Am J Med Genet. 2002. PMID: 12239718

10

Genomic definition of a pure intronic dystrophin deletion responsible for an XLDC splicing mutation: in vitro mimicking and antisense modulation of the splicing abnormality.

Gualandi F, Rimessi P, Cardazzo B, Toffolatti L, Dunckley MG, Calzolari E, Patarnello T, Muntoni F, Ferlini A. Gualandi F, et al. Among authors: ferlini a. Gene. 2003 Jun 5;311:25-33. doi: 10.1016/s0378-1119(03)00527-4. Gene. 2003. PMID: 12853135

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